A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

Filipa Marujo; Simon J Pelham; João Freixo; Ana Isabel Cordeiro; Catarina Martins; Jean-Laurent Casanova; Wei-Te Lei; Anne Puel; João Farela Neves

doi:10.1007/s10875-021-01026-2

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

J Clin Immunol. 2021 Aug;41(6):1376-1379. doi: 10.1007/s10875-021-01026-2. Epub 2021 Apr 7.

Authors

Filipa Marujo^#¹, Simon J Pelham^#², João Freixo³, Ana Isabel Cordeiro⁴, Catarina Martins⁵, Jean-Laurent Casanova^{2

6

7}, Wei-Te Lei^{2

8

9}, Anne Puel^#^{2

6}, João Farela Neves^#^{10

11}

Affiliations

¹ Primary Immunodeficiencies Unit, Hospital Dona Estefânia-CHLC, EPE, Rua Jacinta Marto, 1169-045, Lisbon, Portugal. [email protected].
² St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, 10065, USA.
³ Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigação e Inovação em Saúde, Porto, Portugal.
⁴ Primary Immunodeficiencies Unit, Hospital Dona Estefânia-CHLC, EPE, Rua Jacinta Marto, 1169-045, Lisbon, Portugal.
⁵ CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal.
⁶ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015, Paris, France.
⁷ Howard Hughes Medical Institute, New York, NY, USA.
⁸ Section of Immunology, Rheumatology, and Allergy, Department of Pediatrics, Hsinchu Mackay Memorial Hospital, Hsinchu City, Taiwan.
⁹ Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan City, Taiwan.
¹⁰ Primary Immunodeficiencies Unit, Hospital Dona Estefânia-CHLC, EPE, Rua Jacinta Marto, 1169-045, Lisbon, Portugal. [email protected].
¹¹ CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal. [email protected].

^# Contributed equally.

Abstract

Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.

Keywords: ACT1; Candida spp.; IL-17; TRAF3IP2; chronic mucocutaneous candidiasis.

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Candidiasis, Chronic Mucocutaneous / genetics*
Child
Genetic Predisposition to Disease / genetics
Humans
Interleukin-17 / genetics
Male
Mutation / genetics*

Substances

Adaptor Proteins, Signal Transducing
Interleukin-17
TRAF3IP2 protein, human

Grants and funding

R01 AI127564/AI/NIAID NIH HHS/United States